Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34324426
rs34324426
PEX6
3 0.882 0.080 6 42967450 missense variant C/T snv 2.7E-03 2.9E-03 0.800 1.000 5 2009 2016
dbSNP: rs61753224
rs61753224
PEX6
2 1.000 6 42967537 missense variant G/A snv 0.800 1.000 5 2002 2016
dbSNP: rs61753219
rs61753219
PEX6
64 0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 0.800 1.000 3 2009 2016
dbSNP: rs769896492
rs769896492
PEX6
1 1.000 6 42966813 missense variant G/A snv 4.8E-05 7.0E-06 0.800 1.000 3 2009 2016
dbSNP: rs886037779
rs886037779
PEX6
1 1.000 6 42978497 missense variant G/C snv 4.0E-06 0.800 1.000 3 2009 2016
dbSNP: rs886037780
rs886037780
PEX6
1 1.000 6 42978876 missense variant A/C snv 0.800 1.000 3 2009 2016
dbSNP: rs886037781
rs886037781
PEX6
1 1.000 6 42978855 missense variant C/A snv 0.800 1.000 3 2009 2016
dbSNP: rs886037782
rs886037782
PEX6
1 1.000 6 42964882 missense variant C/A snv 0.800 1.000 3 2009 2016
dbSNP: rs267608216
rs267608216
PEX6
4 0.882 0.080 6 42969714 frameshift variant CCAGGCCT/- delins 8.0E-05 2.1E-05 0.700 1.000 3 2009 2016
dbSNP: rs1561831003
rs1561831003
PEX6
3 0.925 6 42978765 missense variant T/A snv 0.700 0
dbSNP: rs267608241
rs267608241
PEX6
4 0.882 0.080 6 42965712 stop gained G/A snv 2.0E-05; 4.0E-06 0.700 0
dbSNP: rs863225083
rs863225083
PEX6
3 0.882 0.080 6 42967411 frameshift variant A/- del 4.0E-06 7.0E-06 0.700 0